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Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
European Heart Journal ( IF 39.3 ) Pub Date : 2017-10-31 , DOI: 10.1093/eurheartj/ehx596
Nina Eide Hasselberg 1, 2, 3 , Trine Fink Haland 1, 2, 3 , Jørg Saberniak 1, 2, 3 , Pål Haugar Brekke 1 , Knut Erik Berge 4 , Trond Paul Leren 4 , Thor Edvardsen 1, 2, 3 , Kristina Hermann Haugaa 1, 2, 3
Affiliation  

Abstract Aims Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway. Furthermore, we explored the risk factors and the outcomes in LMNA patients. Methods and results During 2003–15, genetic testing was performed in patients referred for familial DCM. LMNA genotype-positive subjects were examined by electrocardiography, Holter monitoring, cardiac magnetic resonance imaging, and echocardiography. A positive cardiac phenotype was defined as the presence of atrioventricular (AV) block, atrial fibrillation/flutter (AF), ventricular tachycardia (VT), and/or echocardiographic DCM. Heart transplantation was recorded and compared with non-ischaemic DCM of other origin. Of 561 unrelated familial DCM probands, 35 (6.2%) had an LMNA mutation. Family screening diagnosed an additional 93 LMNA genotype-positive family members. We clinically followed up 79 LMNA genotype-positive [age 42 ± 16 years, ejection fraction (EF) 45 ± 13%], including 44 (56%) with VT. Asymptomatic LMNA genotype-positive family members (age 31 ± 15 years) had a 9% annual incidence of a newly documented cardiac phenotype and 61% (19/31) of cardiac penetrance during 4.4 ± 2.9 years of follow-up. Ten (32%) had AV block, 7 (23%) AF, and 12 (39%) non-sustained VT. Heart transplantation was performed in 15 of 79 (19%) LMNA patients during 7.8 ± 6.3 years of follow-up. Conclusion LMNA mutation prevalence was 6.2% of familial DCM in Norway. Cardiac penetrance was high in young asymptomatic LMNA genotype-positive family members with frequent AV block and VT, highlighting the importance of early family screening and cardiological follow-up. Nearly 20% of the LMNA patients required heart transplantation.

中文翻译:

Lamin A/C 心肌病:发病年轻,外显率高,经常需要心脏移植

摘要 目的 Lamin A/C (LMNA) 突变导致家族性扩张型心肌病 (DCM),伴有频繁的传导阻滞和心律失常。我们探讨了挪威家族性 DCM 中 LMNA 突变的患病率、心脏外显率和表现力。此外,我们探讨了 LMNA 患者的风险因素和结果。方法和结果 在 2003-15 年期间,对因家族性 DCM 转诊的患者进行了基因检测。LMNA 基因型阳性受试者通过心电图、动态心电图监测、心脏磁共振成像和超声心动图检查。阳性心脏表型被定义为存在房室 (AV) 传导阻滞、心房颤动/扑动 (AF)、室性心动过速 (VT) 和/或超声心动图 DCM。记录心脏移植并与其他来源的非缺血性 DCM 进行比较。在 561 名不相关的家族性 DCM 先证者中,35 名 (6.2%) 具有 LMNA 突变。家庭筛查诊断出另外 93 名 LMNA 基因型阳性家庭成员。我们临床随访了 79 名 LMNA 基因型阳性 [年龄 42 ± 16 岁,射血分数 (EF) 45 ± 13%],其中 44 (56%) 名患有 VT。在 4.4 ± 2.9 年的随访期间,无症状的 LMNA 基因型阳性家庭成员(31 ± 15 岁)新记录的心脏表型的年发生率为 9%,心脏外显率为 61% (19/31)。10 人 (32%) 有房室传导阻滞,7 人 (23%) AF 和 12 人 (39%) 非持续性室速。在 7.8 ± 6.3 年的随访期间,79 名 LMNA 患者中有 15 名(19%)进行了心脏移植。结论 LMNA 突变患病率为挪威家族性 DCM 的 6.2%。经常发生房室传导阻滞和室速的年轻无症状 LMNA 基因型阳性家庭成员的心脏外显率很高,突出了早期家庭筛查和心脏随访的重要性。近 20% 的 LMNA 患者需要心脏移植。
更新日期:2017-10-31
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